Imaging in sensorineural and conductive hearing loss-an educational review.

Hearing loss is the most common sensory impairment globally and can affect all ages. It can be classified into two categories, conductive and sensorineural, though both conditions may coexist. Various causes may be responsible for hearing loss including congenital, infectious, inflammatory and neoplastic.

Functional analysis of three new alpha-thalassemia deletions involving MCS-R2 reveals the presence of an additional enhancer element in the 5' boundary region.

We report three novel deletions involving the Multispecies Conserved Sequences (MCS) R2, also known as the Major Regulative Element (MRE), in patients showing the α-thalassemia phenotype. The three new rearrangements showed peculiar positions of the breakpoints. 1) The (αα)ES is a telomeric 110 kb deletion ending inside the MCS-R3 element.

Imaging Lipid Metabolism at the Golgi Complex.

The development of fluorescence-based molecular imaging has revolutionized cell biology allowing the visualization of specific biomolecules at the microscopic and, more recently, at the nanoscopic scale while in their relevant biological contexts. Nonetheless, despite the imaging toolkit for biologists interested in exploring the subcellular localization and dynamics of proteins and nucleic acids has expanded exponentially in the last decades, the means to visualize and track lipids in cells did not develop to the same extent until recently. Here we described some basic fluorescence-based techniques that can be used in standard cell biology laboratories to visualize subcellular pools of specific lipids and to evaluate their regional metabolism.

Glycosphingolipid metabolic reprogramming drives neural differentiation.

Neural development is accomplished by differentiation events leading to metabolic reprogramming. Glycosphingolipid metabolism is reprogrammed during neural development with a switch from globo- to ganglio-series glycosphingolipid production. Failure to execute this glycosphingolipid switch leads to neurodevelopmental disorders in humans, indicating that glycosphingolipids are key players in this process.

Sphingolipid metabolic flow controls phosphoinositide turnover at the -Golgi network.

Sphingolipids are membrane lipids globally required for eukaryotic life. The sphingolipid content varies among endomembranes with pre- and post-Golgi compartments being poor and rich in sphingolipids, respectively. Due to this different sphingolipid content, pre- and post-Golgi membranes serve different cellular functions.

Glycosphingolipids: synthesis and functions.

Glycosphingolipids (GSLs) comprise a heterogeneous group of membrane lipids formed by a ceramide backbone covalently linked to a glycan moiety. Hundreds of different glycans can be linked to tens of different ceramide molecules, giving rise to an astonishing variety of structurally different compounds, each of which has the potential for a specific biological function. GSLs have been suggested to modulate membrane-protein function and to contribute to cell-cell communication.